What it's like to live with a progressive neuromuscular disease

Tuesday, August 22, 2017

I feel

I feel sad. I feel deflated. I feel disheartened. I feel angry. I feel betrayed. I feel frustrated. I feel helpless. I feel overwhelmed. I feel rage. I feel tired. I feel drained. I feel exhausted. I feel scared. I feel terrified. I feel desperate.

While innocently scrolling through Facebook during my older son’s High Holiday choir practice just minutes ago, I was ambushed by an article announcing that Ultragenyx Pharmaceutical is terminating the development of the drug ACE-ER because phase 3 clinical trials failed to demonstrate significant improvement in muscle strength. They’ve been at it for years. Ultragenyx’s mission is to develop drugs for rare and ultra-rare diseases.

So many patients world-wide invested so many hopes in this trial. This was going to be the first drug to come to market for us. This was supposed to work. The science was there. The commitment and resources were there. The dedication to the cause was there. And yet, we are here. I am here. In this ugly moment.

“We are disappointed by these results, as we had hoped that Ace-ER would offer a new option for GNEM patients. We would like to thank the patients, caregivers, and investigators involved in the Ace-ER development program,” said Emil D. Kakkis, M.D., Ph.D., Chief Executive Officer and President of Ultragenyx.”

I am well aware that this is how it goes. This is the process. Sometimes it works, sometimes it doesn’t.

I am grateful to Dr. Kakkis and his team for investing in us. And even for the conference room named after me. That part was neat.

I wish it could have worked. I wish I weren’t sitting here in the back of the sanctuary quietly crying. I wish I didn’t have to mourn yet another loss.

Please visit the NDF website for more information about HIBM and how you can help fund a cure

Neuromuscular Disease Foundation

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